Figure 1. Truncating Variants in RFC1 in Compound Heterozygous State With Pathogenic (AAGGG)n Expansions Cause CANVAS.

(A) Family pedigrees. (B) Schematic diagram showing the location of mutations identified in this study on RFC1 gene (NM_002913.5). Abbreviation: CANVAS = cerebellar ataxia, neuropathy, and vestibular areflexia syndrome; RFC1 = replication factor complex subunit 1.